Linked Data
dbSNP Id:
rs764869356
ExAC:
5:131726550 C / T
gnomAD v2:
5-131726550-C-T
gnomAD v4:
5-132390858-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390858C>T , CM000667.2:g.132390858C>T | GRCh38 |
| NC_000005.9:g.131726550C>T , CM000667.1:g.131726550C>T | GRCh37 |
| NC_000005.8:g.131754449C>T | NCBI36 |
| NG_008982.1:g.26150C>T | |
| NG_008982.2:g.26155C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1062C>T | ENSP00000388838.2:p.Leu354= | |
| ENST00000435065.7:c.1293C>T | ENSP00000402760.2:p.Leu431= | |
| ENST00000448810.6:c.*73C>T | ENSP00000401860.2:n.*73C>T | |
| ENST00000685543.1:n.1362C>T | ||
| ENST00000686757.1:c.*385C>T | ENSP00000510721.1:n.*385C>T | |
| ENST00000687740.1:n.3906C>T | ||
| ENST00000688151.1:n.2531C>T | ||
| ENST00000689271.1:c.1068C>T | ENSP00000510797.1:p.Leu356= | |
| ENST00000690900.1:c.*385C>T | ENSP00000510703.1:n.*385C>T | |
| ENST00000692212.1:n.2833C>T | ||
| ENST00000692355.1:c.474C>T | ||
| ENST00000692413.1:c.1203C>T | ENSP00000509374.1:p.Leu401= | |
| ENST00000692825.1:c.1289C>T | ENSP00000509447.1:n.1289C>T | |
| ENST00000693308.1:c.1269C>T | ENSP00000509770.1:p.Leu423= | |
| ENST00000693763.1:n.2381C>T | ||
| ENST00000245407.8:c.1221C>T MANE Select | ENSP00000245407.3:p.Leu407= | |
| ENST00000245407.7:c.1221C>T | ENSP00000245407.3:p.Leu407= | |
| ENST00000435065.6:c.1293C>T | ENSP00000402760.2:p.Leu431= | |
| ENST00000447841.5:c.112-1575C>T | ||
| ENST00000448810.5:c.483C>T | ||
| ENST00000461013.5:n.8643C>T | ||
| ENST00000475308.1:n.1899C>T | ||
| ENST00000479605.5:n.324C>T | ||
| NM_001308122.1:c.1293C>T | NP_001295051.1:p.Leu431= | |
| NM_003060.3:c.1221C>T | NP_003051.1:p.Leu407= | |
| XM_011543590.1:c.603C>T | XP_011541892.1:p.Leu201= | |
| XR_427718.1:n.1581C>T | ||
| XR_948290.1:n.1394-1575C>T | ||
| XR_948291.1:n.1575C>T | ||
| XM_011543590.2:c.603C>T | XP_011541892.1:p.Leu201= | |
| XM_017009778.2:c.693C>T | XP_016865267.1:p.Leu231= | |
| XR_001742215.1:n.1476C>T | ||
| XR_001742216.1:n.1495C>T | ||
| XR_427718.2:n.1581C>T | ||
| XR_948290.2:n.1394-1575C>T | ||
| XR_948291.2:n.1575C>T | ||
| NM_003060.4:c.1221C>T MANE Select | NP_003051.1:p.Leu407= | |
| NM_001308122.2:c.1293C>T | NP_001295051.1:p.Leu431= |